Features include always present findings: Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex I, Heart muscle disease (cardiomyopathy), and Decreased activity of mitochondrial complex IV; and common findings: Exercise intolerance, Lactic acidosis, Oligohydramnios, and Enlarged heart (cardiomegaly) and others. 26 total HPO annotations.

C1QBP encodes complement C1q binding protein (282 aa). Multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. Highest expression in Cells EBV-transformed lymphocytes (369.7 TPM) and Cells Cultured fibroblasts (204.6 TPM).

Combined oxidative phosphorylation deficiency 33 is associated with mutations in the C1QBP gene on chromosome 17.

The C1QBP protein participates in C1QBP homotrimer, kallikrein:KNG1:C1QBP, C1QBP:KRT1, PLAUR:KRT1, and KLKB1:KNG1:(C1QBP, C1QBP:KRT1, PLAUR:KRT1) pathways.

C1QBP is classified as a druggable target (Cell Surface, Transcription Factor Binding, and Transporter categories) with score 3.3.

Genetic testing for C1QBP is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for combined oxidative phosphorylation deficiency 33 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 9 common features.

No clinical trials have been registered for combined oxidative phosphorylation deficiency 33.

38 publications have been identified in PubMed for combined oxidative phosphorylation deficiency 33. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (16%).